CNIO researchers and lead authors Marcos Malumbres and Carolina Villarroya

A unique patient survivor of ten different types of cancer in his lifetime could hold the key to developing new early detection and immunotherapy treatments, scientists say.

A cancer diagnosis can change someone’s life, but 12 is something none of us can understand.

There was nothing unusual about this individual’s life path. They first develop tumors in infancy, followed by others every few years. In less than forty years of life, the patient has twelve tumors, at least five of which are malignant, each in a different part of the body.

Despite this death sentence, as many see it, the patient’s immune system seems to be in overdrive and able to mount anti-inflammatory responses to fight all of these different cancers.

When the patient first came to Spain’s National Investigative Oncology (CNIO), a blood sample was taken to sequence the genes most involved in hereditary cancer, but no changes were found. The researchers then examined the entire genome of the individual and found a mutation in the gene MAD1L1.

This gene is important in the process of cell division and proliferation. CNIO researchers analyzed the results of the resulting mutations and concluded that they cause changes in the number of chromosomes in the cells – all cells in the human body have 23 pairs of chromosomes.

In animal models, when there is a mutation in both copies of this gene – each from the same parent – the fetus dies. To the researchers’ surprise, the man in this case had a mutation in both copies and survived – something that had never been seen before.

“Academically we can’t talk about a new syndrome because it’s a description of a case, but it’s biological,” said co-author of the study, Miguel Urios from the CNIO.

“Other genes are known in which mutations change the number of chromosomes in cells, but this case is unique in its aggressiveness, its high false-positive rate, and its high risk of developing different tumors.”

it is Hypothesis The authors report that the continuous production of these double-mutated copies has created a chronic immune system for these types of cells, which helps tumors to disappear more quickly.

the same Sweet Cancer Discovery: Pomegranates have been found to significantly fuel tumor-fighting immune cells.

According to the authors, the discovery that the immune system can mount a protective response against cells with the wrong number of chromosomes could open up new treatment options in the future. Seventy percent of human tumors have cells with an abnormal number of chromosomes.

Additionally, this literally could pave the way for a better diagnosis of the same person.

Cell analysis of an individual with a single mutation of a patient and some relatives MAD1L1 Among other unusual conditions, Jean explained that blood cells contain hundreds of chromosomes of the same lymphocytes, so they come from a single and rapidly multiplying cell.

Related: Doctors have hailed a new era for cancer screening as they can detect more cancers in the early stages of a single blood test

Lymphocytes are immune cells that attack certain invaders; Sometimes, however, the lymphocyte proliferates and spreads to the tumor. It is this process that single cell analysis captures in this work: the early stages of cancer.

Based on this finding, the researchers propose in their paper that single-cell analysis can be used to identify cells with tumor potential long before clinical symptoms appear.

Share this one-of-a-kind story with your friends…

Leave a Reply

Your email address will not be published. Required fields are marked *